Search results for "Pathway"

showing 10 items of 1685 documents

Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Pair 6/geneticsGenetics and epigenetic pathways of disease [NCMLS 6]Genome-wide association studyAetiology screening and detection [ONCOL 5]1Q21.1Major Histocompatibility Complex/geneticsMajor Histocompatibility ComplexTranscription Factor 40302 clinical medicineChemicals And Cas Registry NumbersPerception and Action [DCN 1]Copy-number variationPOPULATIONGeneticsPair 18/genetics0303 health scienceseducation.field_of_studyGenomeHuman/geneticsMultidisciplinaryBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsSchizophrenia/*genetics/immunologyGenetic Predisposition to Disease/*genetics3. Good healthDNA-Binding ProteinsNeurogranin/geneticsDISEASESChromosomes Human Pair 6Single Nucleotide/*geneticsFunctional Neurogenomics [DCN 2]Zinc finger protein 804AHumanGenetic MarkersPsychosisGenotypePopulationTranscription Factors/geneticsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideChromosomesPair 11/geneticsArticleChromosomes; Human; Pair 11/genetics; Pair 18/genetics; Pair 6/genetics; DNA-Binding Proteins/genetics; Genetic Markers/genetics; Genetic Predisposition to Disease/*genetics; Genome; Human/genetics; Genome-Wide Association Study; Genotype; Humans; Major Histocompatibility Complex/genetics; Neurogranin/genetics; Polymorphism; Single Nucleotide/*genetics; Schizophrenia/*genetics/immunology; Transcription Factors/geneticsGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesTranslational research [ONCOL 3]medicineHumansSNPGenetic Predisposition to DiseasePolymorphismGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyGenetic associationGenetic Markers/geneticsHereditary cancer and cancer-related syndromes [ONCOL 1]Genome HumanChromosomes Human Pair 11MEMORYmedicine.diseaseGENENEUROGRANINDELETIONSSchizophreniabiology.proteinNeurograninChromosomes Human Pair 18DNA-Binding Proteins/geneticsMENTAL-RETARDATIONSCAN030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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La perception des parcours d’études non linéaires par les recruteur·euse·s

2020

Employer’s hiring behavior is changing and educational qualifications alone are not enough to explain hiring of graduates. In France, more and more young people drop out and return to full-time study. Therefore, they gain different life experiences outside the sphere of work: travel abroad, period of employment, civic services, etc. Yet, there was little research on this topic in France. This study explores the relationship between atypical schooling pathways and labour market entry from the perspective of employers. On the basis of vignette study, we stimulated a hiring process with a sample of recruiters. A study delay (Master level) was a negative brand in applicants’ resumes if experien…

Parcours atypiqueReprise d'étudesvignette studyEmployeurInsertion professionnelle[SHS.EDU] Humanities and Social Sciences/Educationtemporary schooling interruptionatypical schooling pathwaysrecruiter’s perceptionPerceptionParcours d'étudesrecruiter's perceptionMarché du travail
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Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…

2008

Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…

ParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Genetics (clinical)0303 health sciencesTPH210058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthData Interpretation StatisticalFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideGenetic determinismGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]Translational research [ONCOL 3]medicineAttention deficit hyperactivity disorderHumansFamilyGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAlleles030304 developmental biologyChi-Square DistributionEndocrinology and reproduction [UMCN 5.2]business.industrymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Multicenter studyAttention Deficit Disorder with HyperactivityEtiologybusiness030217 neurology & neurosurgeryAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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GABAergic projections from the subplate to Cajal-Retzius cells in the neocortex.

2011

Subplate neurons and Cajal-Retzius cells play an important role in the corticogenesis. Despite morphological evidence, the question whether subplate neurons innervate Cajal-Retzius cells has not been studied yet. We report that electrical stimulation in the subplate resulted in evoked GABAergic inhibitory postsynaptic currents (eIPSCs) in Cajal-Retzius cells. The eIPSC latency showed minor variability and amounted to approximately 4 ms, suggesting the monosynaptic connection. During the first postnatal week: (i) eIPSC amplitude increased, (ii) eIPSC kinetics sped up, (iii) the size of readily releasable pool increased, and (iv) γ-aminobutyric acid release probability decreased. We conclude …

Patch-Clamp TechniquesPostsynaptic CurrentNeocortexBiologyInhibitory postsynaptic potentialSynaptic TransmissionMiceSubplateNeural PathwaysmedicineAnimalsgamma-Aminobutyric AcidNeuronsNeocortexGeneral NeuroscienceExcitatory Postsynaptic PotentialsElectric StimulationElectrophysiological PhenomenaMice Inbred C57BLCorticogenesisElectrophysiologymedicine.anatomical_structurenervous systemAnimals NewbornCerebral cortexData Interpretation StatisticalSynapsesGABAergicNeuroscienceNeuroreport
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Pathway-specificity in N-methyl-d-aspartate receptor-mediated synaptic inputs onto subplate neurons

2007

The subplate plays an important role in forming neuronal connections during early cortical development. We characterized by the use of whole-cell and cell-attached patch-clamp recordings in coronal brain slices from newborn mice (postnatal day [P] 0-3) the functional properties of two major pathways onto subplate neurons (SPn), the thalamocortical and the intra-subplate synaptic input. The two afferent pathways were stimulated extracellularly with bipolar electrodes placed in the thalamus and the subplate, respectively. Synaptically evoked and pharmacologically isolated N-methyl-d-aspartate receptor (NMDAR) -mediated responses with an onset latency of approximately 6 ms could be reliably re…

Patch-Clamp TechniquesThalamusIn Vitro TechniquesBiologyReceptors N-Methyl-D-AspartatePiperazinesMicechemistry.chemical_compoundThalamusSubplateNeural PathwaysmedicineIfenprodilAnimals6-Cyano-7-nitroquinoxaline-23-dioneCerebral CortexNeuronsGeneral NeuroscienceAge FactorsGlutamate receptorExcitatory Postsynaptic PotentialsDose-Response Relationship RadiationElectric StimulationElectrophysiologymedicine.anatomical_structureAnimals NewbornchemistrySynapsesExcitatory postsynaptic potentialNMDA receptorNeuronExcitatory Amino Acid AntagonistsNeuroscienceNeuroscience
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Htid-1, the human homolog of the Drosophila melanogaster l(2)tid tumor suppressor, defines a novel physiological role of APC.

2007

Htid-1, the human counterpart of the Drosophila tumor suppressor gene lethal(2)tumorous imaginal discs (l(2)tid) encodes three splice forms translated into three cytosolic - Tid50, Tid48 and Tid46 - and three mitochondrial - Tid43, Tid40 and Tid38 - proteins. Here we provide evidence for the association of the endogenous Tid50/Tid48 proteins with the adenomatous polyposis coli (APC) tumor suppressor in normal colon epithelium, colorectal cancer cells and mouse NIH3T3 fibroblasts. Using the Glutathione S-transferase binding assay we show that the N-terminal region including the Armadillo domain (ARM) of APC is sufficient to bind the Tid molecules. Using immunoprecipitation and confocal micro…

Patched ReceptorsBeta-cateninTumor suppressor geneAdenomatous polyposis coliAdenomatous Polyposis Coli ProteinReceptors Cell SurfacePlasma protein bindingLigandsMitochondrial ProteinsMiceCytosolCell Line TumorAnimalsDrosophila ProteinsGuanine Nucleotide Exchange FactorsHumansIntestinal MucosaActinHeat-Shock Proteinsbeta CateninPatched ReceptorsbiologySequence Homology Amino AcidGene Expression ProfilingTumor Suppressor ProteinsWnt signaling pathwayGene Expression Regulation DevelopmentalCell BiologyHSP40 Heat-Shock ProteinsActin cytoskeletonMolecular biologyCell biologyMitochondriaDrosophila melanogasterras GTPase-Activating ProteinsMultiprotein Complexesbiology.proteinNIH 3T3 CellsRho Guanine Nucleotide Exchange FactorsProtein BindingCellular signalling
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Modulation of Hedgehog target gene expression by the Fused serine-threonine kinase in wing imaginal discs

1998

0925-4773 doi: DOI: 10.1016/S0925-4773(98)00130-0; The Fused (Fu) serine–threonine kinase and the Suppressor of fused (Su(fu)) product are part of the Hedgehog (Hh) signalling pathway both in embryos and in imaginal discs. In wing imaginal discs, the Hh signal induces Cubitus interruptus (Ci) accumulation and activates patched (ptc) and decapentaplegic (dpp) expression along the anterior/posterior (A/P) boundary. In this paper, we have examined the role of the Fu and Su(fu) proteins in the regulation of Hh target gene expression in wing imaginal discs, by using different classes of fu alleles and an amorphic Su(fu) mutation. We show that, at the A/P boundary, Fu kinase activity is involved …

PatchedEmbryologyanimal structuresReceptors Cell SurfaceBiologyProtein Serine-Threonine KinasesSignal transductionCubitus interruptusImaginal disc developmentMorphogenesisAnimalsDrosophila ProteinsWings AnimalHedgehog ProteinsKinase activitySuppressor of fusedGeneticsSerine/threonine-specific protein kinaseHomeodomain ProteinsDecapentaplegicFusedGene Expression Regulation DevelopmentalMembrane ProteinsCi proteinHedgehog signaling pathwayCell biologyDNA-Binding ProteinsRepressor ProteinsImaginal discDrosophila melanogasterInsect ProteinsDrosophilaHedgehogMorphogenTranscription FactorsDevelopmental Biology
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Endothelial Wnt/β-catenin signaling inhibits glioma angiogenesis and normalizes tumor blood vessels by inducing PDGF-B expression

2012

Wnt modulates glioma vascularization by regulating PDGF-B expression.

PathologyAngiogenesisCentral Nervous System NeoplasmsMice0302 clinical medicineImmunology and AllergyWnt Signaling Pathwaybeta Catenin0303 health sciencesbiologyNeovascularization PathologicBrain NeoplasmsWnt signaling pathwayIntracellular Signaling Peptides and ProteinsForkhead Transcription FactorsGliomaProto-Oncogene Proteins c-sis3. Good healthmedicine.anatomical_structureBlood-Brain Barrier030220 oncology & carcinogenesiscardiovascular systemIntercellular Signaling Peptides and ProteinsFemalemedicine.medical_specialtyBeta-cateninEndotheliumImmunologyNotch signaling pathwayMice NudeWnt1 ProteinMural cellArticle03 medical and health sciencesGliomamedicineAnimalsHumansddc:610neoplasms030304 developmental biologyAdaptor Proteins Signal TransducingCalcium-Binding ProteinsMembrane Proteinsmedicine.diseaseXenograft Model Antitumor Assaysnervous system diseasesDKK1Cancer researchbiology.proteinEndothelium VascularNeoplasm Grading
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Expression of Transketolase-like 1 and Activation of Akt in Grade IV Glioblastomas Compared With Grades II and III Astrocytic Gliomas

2008

Transketolases link the Embden-Meyerhof pathway to the pentose phosphate pathway. An influence of p-Akt on this metabolism was described. This study was performed to compare the expression of transketolase-like 1 (TKTL1) and p-Akt in glioblastoma multiforme (GBM) and other astrocytic gliomas (AGs, grades II and III). We analyzed 15 GBMs, 15 AGs (grade II), and 3 normal brain samples for TKTL1 expression by semiquantitative reverse transcription–polymerase chain reaction and Western blotting and 23 GBMs, 9 grade III AGs, and 7 grade II AGs immunohistochemically (TKTL1 and p-Akt). On the protein level, TKTL1 was significantly overexpressed in tumors. Immunohistochemically, the tumor grade sig…

Pathologymedicine.medical_specialtyAstrocytomaGeneral MedicineMetabolismAstrocytomaPentose phosphate pathwayTransketolaseBiologymedicine.diseaseEnzyme assayUp-RegulationEnzyme ActivationGene Expression Regulation NeoplasticBlotmedicinebiology.proteinCancer researchHumansGlycolysisRNA MessengerTransketolaseGlioblastomaProto-Oncogene Proteins c-aktProtein kinase BAmerican Journal of Clinical Pathology
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Notch signalling is off and is uncoupled from HES1 expression in Ewing's sarcoma

2010

Notch can act as an oncogene or as a tumour suppressor and thus can either promote or inhibit tumour cell growth. To establish Notch status in Ewing's sarcoma family of tumours (ESFT), we investigated the Notch pathway by gene expression profiling meta-analysis or immunohistochemistry in samples obtained from 96 and 24 ESFT patients, respectively. We found that although Notch receptors were highly expressed, Notch did not appear to be active, as evidenced by the absence of Notch receptors in cell nuclei. In contrast, we show that Notch receptors known to be active in colon adenocarcinoma, hepatocarcinoma, and pancreatic carcinoma stain cell nuclei in these tumours. High expression of the No…

Pathologymedicine.medical_specialtyCellNotch signaling pathwayBone NeoplasmsSarcoma EwingBiologyPathology and Forensic MedicineBasic Helix-Loop-Helix Transcription FactorsTumor Cells CulturedmedicineHumansHES1HEY1Transcription factorCell ProliferationCell NucleusHomeodomain ProteinsRegulation of gene expressionReceptors NotchCell growthGene Expression ProfilingNeoplasm ProteinsGene Expression Regulation Neoplasticmedicine.anatomical_structureNeoplastic Stem CellsCancer researchTranscription Factor HES-1Cyclin-dependent kinase 8Signal TransductionThe Journal of Pathology
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